ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.841G>T (p.Glu281Ter)

dbSNP: rs1575711244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794339 SCV000933739 pathogenic not provided 2018-08-19 criteria provided, single submitter clinical testing Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with AGXT-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu281*) in the AGXT gene. It is expected to result in an absent or disrupted protein product.

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